European Genetic Diagnostic Laboratories
The laboratories below are able to support genetic diagnostic testing for one or more of the WABB syndromes.
Key: MLPA = Multiplex Ligation-dependent Probe Amplification, MA = Micro Array, DS = Direct Sequencing, NGS = Next Generation Sequencing.
Laboratory Name | Contact Person / Website | Genetic Testing For | Testing Method | Accreditation |
---|---|---|---|---|
Bioscientia, GERMANY 1 |
Carsten Bergmann –
Carsten.bergmann@bioscientia.de
www.bioscinentia.de/de/diagnostic/humangenetik |
Wolfram, Alstrom, Bardet-Biedl | MLPA, MA, DS and NGS (W), MA, DS and NGS (A),(BB) | Yes - ISO, EMQN, DGKL, CAP |
Department of Medical Genetics, University of Antwerp, BELGIUM 1 |
Wim Wuyts –
wim.wuyts@ua.ac.be
|
Wolfram | DS | TBC |
Department of Molecular Genetics, University of Exeter, UK 1 |
Sian Ellard –
Sian.Ellard@nhs.net
|
Wolcott Rallison and Thiamine Responsive Megaloblastic Anaemia | DNA Sequencing | Yes - CPA |
Laboratory of Immunopathology and Genetics, Medical University of Lodz , POLAND 1 |
Maciej Borowiec –
maciej.borowiec@umed.lodz.pl
|
Wolfram and Alstrom | MLPA and DS | Yes - ISO, EMQN, Polish Society of Human Genetics |
North East Thames Regional Molecular Genetics Laboratory, UK 1 |
Sam Loughlin –
sam.loughlin@gosh.nhs.uk,
http://www.labs.gosh.nhs.uk/laboratory-services/genetics/tests/bardet-biedl-syndrome |
Bardet-Biedl | NGS and Sanger sequencing | Yes |
Padua University, ITALY 1 |
Pietro Maffei –
pietromaffei@libero.it
Gabriella Milan – gabriella.milan@unipd.it |
Alstrom | DS | TBC |
Radboud University Nijmegen Medical Centre, NETHERLANDS 1 |
L. Hoefsloot –
l.hoefsloot@antrg.umcn.nl
|
Wolfram, Alstrom and Bardet-Biedl | DS and MLPA (W),DS (A), DS Asper chip (BB) | Yes - CCKL |
Service de Genetique Moleculaire, CHU Nice, FRANCE 1 |
Mickael Vivien –
vivien.m@chu-nice.fr
|
Wolfram, Mitochondrial Diabetes | DS(W), DS and Surveyor (Mit. Diabetes) | Yes |
Universidad de Vigo, SPAIN 1 |
Diana Valverde –
dianaval@uvigo.es
|
Alstrom and Bardet-Biedl | DS and MA | No |
West Midlands Regional Genetics Lab, UK 1 |
Fiona MacDonald –
fiona.macdonald@bwhct.nhs.uk
|
Wolfram and Alstrom | DS and MLPA (W), DS (A) | Yes - CPA |
Mitteldeutscher Praxisverbund Humangenetik, GERMANY 1 |
Steffi Herbst –
info@genetik-dresden.de
|
Wolfram | DS and MLPA | Yes |
Wilhelm Johannsen Centre for Functional Genomics , DENMARK 1 |
Lisbeth Tranebjaerg –
tranebjaerg@sund.ku.dk
|
Wolfram | TBC | Yes |
1 Able to accept EU and Non-EU Samples